DISEASES

Disease-gene associations mined from literature

Literature associating BICD2 and Charcot-Marie-Tooth disease type 4

BICD2 [ENSP00000349351]

Bicaudal D homolog 2 (Drosophila); Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non- processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex. Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity).

Synonyms:  BICD2,  BICD2p,  hBICD2,  Q8TD16,  KIAA0699 ...

Linkouts:  STRING  Pharos  UniProt  OMIM